Good prognosis of adult hemophagocytic lymphohistiocytosis associated with the germline HAVCR2 mutation.

Hemophagocytic lymphohistiocytosis (HLH) in adults may be idiopathic or secondary to various conditions. Recent studies identified germline hepatitis A virus-cellular receptor 2 (HAVCR2) mutations in subcutaneous panniculitis-like T-cell lymphoma (SPTCL) with HLH. The roles of this mutation in HLH, especially in idiopathic group, have never been explored.

Stability of Hemoglobin Constant Spring Identified by Capillary Electrophoresis.

Objective: Hemoglobin Constant Spring (HbCS) is often missed by routine hemoglobin analysis. The aim of this research was to study HbCS stability as identified by capillary electrophoresis (CE) to determine the specimen storage time limit.

Methods: The EDTA blood of 29 HbCS samples were kept at 4°C and analyzed every workday until CE could not detect HbCS or until 7 weeks after blood collection.

Comprehensive screening for coexisting heterozygous α-thalassemia in hemoglobin E trait.

A sensitive screening for the coexistence of α-thalassemia and the hemoglobin E (Hb E) trait is important to identify at-risk couples for hydrops fetalis. However, previous cutoff values have shown a positive predictive value (PPV) of only 50% or less. This study aimed to define more specific indicators to reduce the need for DNA tests.

Natural anticoagulant deficiencies in Thais: A population-based study.

Introduction: In contrast to Caucasians, hereditary anticoagulant deficiencies are more common in Asians and mutations are heterogeneous among different countries. This study aimed to determine the prevalence and genetic basis of protein C and protein S deficiencies in Thai population.

Methods: Healthy volunteers were tested for protein C activity and free protein S antigen.

The first validated criteria for effective screening and a new simplified method for α-globin gene sequencing for diagnosis of uncommon α-globin mutations.

No well-defined phenotypes that distinguish between unknown α- and β-globin mutations have been reported to date. Direct DNA sequencing of α-globin genes can be technically challenging, as α1- and α2-globin genes are nearly indistinguishable. To detect hemoglobin variants (HbXs) on Hb analysis, the entire β- and α-globin genes were directly sequenced using a newly developed sequencing protocol for α-globin genes.

Diagnostic utility of isoelectric focusing and high performance liquid chromatography in neonatal cord blood screening for thalassemia and non-sickling hemoglobinopathies.

Background: Thalassemia syndromes are highly prevalent in Southeast Asia. In Thailand, high performance liquid chromatography (HPLC) is the most common technique routinely performed in diagnosis of thalassemia and hemoglobinopathies, while isoelectric focusing (IEF) is rarely employed. We compared the diagnostic utility of IEF and HPLC in neonatal screening for thalassemia and non-sickling hemoglobinopathies.

Clinical and hematological characteristics of uncommon beta-globin variants in Thailand.

Hemoglobin (Hb) E is the commonest beta-globin variant in Thailand. Other uncommon variants have been rarely reported. We performed direct DNA sequencing of the entire beta-globin gene in cases showing unidentified bands by isolectric focusing electrophoresis or high-performance liquid chromatography.

Elevated serum transferrin receptor levels in common types of thalassemia heterozygotes in Southeast Asia: a correlation with genotypes and red cell indices.

Background: Serum transferrin receptor (sTfR) measurement is a helpful test for diagnosis of iron deficiency. Increased values are detectable in thalassemia syndromes due to increased erythropoiesis. However, sTfR has never been studied in hemoglobin E (HbE) carriers and their interactions with alpha-thalassemia heterozygotes that are common in Southeast Asia.

Severe beta(0) thalassemia/hemoglobin E disease caused by de novo 22-base pair duplication in the paternal allele of beta globin gene.

beta Thalassemia is a major public health concern in Southeast Asia. A prevention program has been implemented in Thailand comprising mass carrier screening and genetic testing. In this study, a Thai girl with severe beta thalassemia/hemoglobin (Hb) E disease was born from the mother with Hb E trait and the genotypically normal father.

Evaluation of automated glycohemoglobin analyzer HLC-723G7 beta-thalassemia analysis mode.

We evaluated the new automated glycohemoglobin analyzer HLC-723G7 (G7) intended for beta-thalassemia diagnosis to determine correlation of hemoglobin (Hb) F and Hb A2 quantitation with the Variant beta-Thalassemia Short Program and to evaluate the performance of the G7 analyzer. Two hundred fifty EDTA blood samples with Hb A, A2, and F by Variant were analyzed for Hb A2 and Hb F by G7 device. Recovery, precision, and interference of the G7 analyzer were studied.